People with inflammatory bowel disease (IBD) are being invited to participate in the first comprehensive genomic study of the condition ever undertaken in Ireland.
Genomics is the study of genomes, the complete set of genetic material within an organism. The human genome consists of all of the thousands of genes and the 23 chromosome pairs.
IBD refers to the conditions Crohn's disease and ulcerative colitis. There is no known cause or cure and some 20,000 Irish people, including hundreds of children, are affected.
The conditions have similar symptoms, including abdominal pain, diarrhoea, fever, loss of appetite and weight loss. Left uncontrolled, symptoms may flare up, causing severe abdominal pain and frequent visits to the bathroom. If parts of the colon become too inflamed, patients may need surgery and a life-long colostomy bag.
A new research collaboration between Genomics Medicine Ireland Ltd and two Dublin hospitals, St Vincent's University Hospital and Tallaght Hospital, aims to identify genetic markers that can help diagnose IBD, predict disease severity and identify personalised treatments for those affected.
It is largely accepted that genetics has a key role to play in IBD. Previous international studies have identified large stretches of DNA that are associated with IBD, and some genes have been strongly linked to the development of the condition.
However, the risk genes that have been identified only explain a small proportion of IBD disease risk, meaning that there are many genetic and environmental risk factors yet to be identified.
"What makes this research different from other studies is that we are seeking to identify the gap between current treatments and disease outcomes. As we gain a better understanding of the role of genetics in IBD and in an individual's response to different drug treatments, it will enable a more personalised approach to the treatment of the condition.
"By participating in the study, patients are helping in the development of better diagnostics and therapeutics for the treatment and prevention of IBD," commented Prof Glen Doherty, a consultant gastroenterologist at St Vincent's.
Meanwhile, according to Prof Deirdre McNamara, a consultant gastroenterologist at Tallaght Hospital, this study will enable researchers to gain ‘a comprehensive understanding of the interactions between genes, environment, biology and the disease'.
"IBD has evolved into a global disease - over 2.5 million people in Europe and one million people in the US are estimated to have it, while its prevalence is also on the rise in newly industrialised continents.
"Irish IBD patients have an opportunity to contribute to potentially life-changing research that will benefit not just our patients here in Ireland, but potentially people with IBD throughout the world," she explained.
Speaking at the launch of the study, Sara Byrne (27), who has had IBD since she was 15, said she hopes there will be a cure found in the future.
"I've had three major surgeries to try and bring my condition under control. The more we increase our understanding of IBD through research such as this, the better chance we have of finding a cure or at least improving the treatments available, so that if you are living with IBD, its impact on your day-to-day life is minimised. It's really important that as many IBD patients as possible participate in this study to help us on this journey," she noted.
People with IBD attending either St Vincent's University Hospital or Tallaght Hospital, who are interested in participating in the study, should ask their consultant for more information.
Meanwhile, Genomics Medicine Ireland also hopes to extend this study to other hospitals in the near future.